NM_007262.5(PARK7):c.293G>A (p.Arg98Gln) AND Renal cysts and diabetes syndrome

Germline classification:: Likely benign (1 submission)
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV001258287.2

Allele description [Variation Report for NM_007262.5(PARK7):c.293G>A (p.Arg98Gln)]

NM_007262.5(PARK7):c.293G>A (p.Arg98Gln)

Gene:

PARK7:Parkinsonism associated deglycase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1p36.23

Genomic location:

Preferred name:

NM_007262.5(PARK7):c.293G>A (p.Arg98Gln)

HGVS:

NC_000001.11:g.7970934G>A
NG_008271.1:g.14281G>A
NM_001123377.2:c.293G>A
NM_007262.5:c.293G>AMANE SELECT
NP_001116849.1:p.Arg98Gln
NP_009193.2:p.Arg98Gln
NC_000001.10:g.8030994G>A
NM_007262.4:c.293G>A

Protein change:

R98Q

Links:

dbSNP: rs71653619

NCBI 1000 Genomes Browser:

rs71653619

Molecular consequence:

NM_001123377.2:c.293G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_007262.5:c.293G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Renal cysts and diabetes syndrome (RCAD)
Synonyms:: Maturity-onset diabetes of the young, type 5; MODY type 5; Hyperuricemic nephropathy, familial juvenile, atypical; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0007669; MedGen: C0431693; Orphanet: 93111; OMIM: 137920

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001435214	Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely benign	germline	research	PubMed (8) [See all records that cite these PMIDs] 12891685, 14705128, 15219840, 22173095, 22428580, 22960331, 22995991, 25741868

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001435214

Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely benign

germline

research

PubMed (8)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	research

Citations

PubMed

Early-onset Parkinson's disease caused by a compound heterozygous DJ-1 mutation.

Hague S, Rogaeva E, Hernandez D, Gulick C, Singleton A, Hanson M, Johnson J, Weiser R, Gallardo M, Ravina B, Gwinn-Hardy K, Crawley A, St George-Hyslop PH, Lang AE, Heutink P, Bonifati V, Hardy J, Singleton A.

Ann Neurol. 2003 Aug;54(2):271-4.

PubMed [citation]

PMID:: 12891685

The R98Q variation in DJ-1 represents a rare polymorphism.

Hedrich K, Schäfer N, Hering R, Hagenah J, Lanthaler AJ, Schwinger E, Kramer PL, Ozelius LJ, Bressman SB, Abbruzzese G, Martinelli P, Kostic V, Pramstaller PP, Vieregge P, Riess O, Klein C.

Ann Neurol. 2004 Jan;55(1):145; author reply 145-6. No abstract available.

PubMed [citation]

PMID:: 14705128

See all PubMed Citations (8)

Details of each submission

From Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard, SCV001435214.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	research	PubMed (8)

Description

The heterozygous p.Arg98Gln variant in PARK7 has been identified in 3 individuals with Parkinson disease (PMID: 12891685, 14705128), but has also been identified in >1% of South Asian chromosomes and 7 homozygotes by ExAC (http://gnomad.broadinstitute.org/). In vitro functional studies provide some evidence that the p.Arg98Gln variant may impact protein function (PMID: 22428580, 15219840, 15790532). However, these types of assays may not accurately represent biological function. In summary, although additional studies are required to fully establish its clinical significance, this variant meets criteria to be classified as likely benign for autosomal recessive Parkinson disease.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Apr 15, 2024

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